Publications:

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Sitosterolemia: A Case Report and a Concise Literature Review.

Case Reports In Endocrinology

Mahzari, Moeber M MM

Publication Date: 2023

Variant appearance in text: ABCG8: 1715T>C; Leu572Pro

PubMed Link: 36937651

Variant Present in the following documents:

• CRIE2023-4451595.pdf

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Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Frontiers In Immunology

Atmar, Khaled K; Ruivenkamp, Claudia A L CAL; Hooimeijer, Louise L; Nibbeling, Esther A R EAR; Eckhardt, Corien L CL; Huisman, Elise J EJ; Lankester, Arjan C AC; Bartels, Marije M; Santen, Gijs W E GWE; Smiers, Frans J FJ; van der Burg, Mirjam M; Mohseny, Alexander B AB

Publication Date: 2022

Variant appearance in text: ABCG8: Leu572Pro

PubMed Link: 35572556

Variant Present in the following documents:

• Main text
• fimmu-13-883826.pdf
• Table_1.xlsx, sheet 1

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Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters

Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY

Publication Date: 2020-12

Variant appearance in text: ABCG8: L572P

PubMed Link: 32978801

Variant Present in the following documents:

• Main text
• FEB2-594-4035.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ABCG8: 1715T>C; L572P

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Biochemical Society Transactions

Zein, Aiman A AA; Kaur, Rupinder R; Hussein, Toka O K TOK; Graf, Gregory A GA; Lee, Jyh-Yeuan JY

Publication Date: 2019-10-31

Variant appearance in text: ABCG8: L572P

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.pdf

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Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA

Publication Date: 2018-09-01

Variant appearance in text: ABCG8: L572P

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCG8: L572P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ABCG8: L572P

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG8: Leu572Pro

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

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